Canonical Allele Identifier: CA531314713

Gene: NBAS

Linked Data

• dbSNP Id: rs753328761
• gnomAD v2: 2-15358890-C-A
• gnomAD v4: 2-15218766-C-A
• MyVariant Identifiers: chr2:g.15358890C>A (hg19) ; chr2:g.15218766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218766C>A , CM000664.2:g.15218766C>A	GRCh38
NC_000002.11:g.15358890C>A , CM000664.1:g.15358890C>A	GRCh37
NC_000002.10:g.15276341C>A	NCBI36
NG_032964.1:g.347583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4418+7G>T
ENST00000700062.1:c.4426+13656G>T
ENST00000700063.1:c.943+7G>T
ENST00000700064.1:c.2288+7G>T
ENST00000281513.10:c.6432+7G>T MANE Select	ENSP00000281513.5:n.6432+7G>T
ENST00000281513.9:c.6432+7G>T	ENSP00000281513.5:n.6432+7G>T
ENST00000417461.5:c.512+13656G>T	ENSP00000392421.1:n.512+13656G>T
ENST00000442506.5:c.3575+7G>T
NM_015909.3:c.6432+7G>T	NP_056993.2:n.6432+7G>T
NR_052013.2:n.6280+13656G>T
XM_011510357.1:c.6303+7G>T	XP_011508659.1:n.6303+7G>T
XM_011510358.1:c.6432+7G>T	XP_011508660.1:n.6432+7G>T
XM_011510359.1:c.5793+7G>T	XP_011508661.1:n.5793+7G>T
XM_011510360.1:c.4233+7G>T	XP_011508662.1:n.4233+7G>T
XM_011510361.1:c.4224+7G>T	XP_011508663.1:n.4224+7G>T
XM_011510357.2:c.6303+7G>T	XP_011508659.1:n.6303+7G>T
XM_011510358.2:c.6432+7G>T	XP_011508660.1:n.6432+7G>T
XM_011510360.2:c.4233+7G>T	XP_011508662.1:n.4233+7G>T
XM_011510361.2:c.4224+7G>T	XP_011508663.1:n.4224+7G>T
XM_017004317.1:c.6432+7G>T	XP_016859806.1:n.6432+7G>T
XM_024452961.1:c.5793+7G>T	XP_024308729.1:n.5793+7G>T
NM_015909.4:c.6432+7G>T MANE Select	NP_056993.2:n.6432+7G>T
NR_052013.3:n.6266+13656G>T